POU3F3
POU domain, class 3, transcription factor 3
Also known as: BRN1, OTF8, PO3F3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P20264
- Gene
- POU3F3
- Ensembl
- ENSG00000198914
- Chromosome
- 2
- Canonical length
- 500 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015]
Canonical amino-acid sequenceUniProt
500 residues, UniProt reviewed canonical sequence.
>P20264|POU3F3
1 MATAASNPYL PGNSLLAAGS IVHSDAAGAG GGGGGGGGGG GGGAGGGGGG MQPGSAAVTS
61 GAYRGDPSSV KMVQSDFMQG AMAASNGGHM LSHAHQWVTA LPHAAAAAAA AAAAAVEASS
121 PWSGSAVGMA GSPQQPPQPP PPPPQGPDVK GGAGRDDLHA GTALHHRGPP HLGPPPPPPH
181 QGHPGGWGAA AAAAAAAAAA AAAAHLPSMA GGQQPPPQSL LYSQPGGFTV NGMLSAPPGP
241 GGGGGGAGGG AQSLVHPGLV RGDTPELAEH HHHHHHHAHP HPPHPHHAQG PPHHGGGGGG
301 AGPGLNSHDP HSDEDTPTSD DLEQFAKQFK QRRIKLGFTQ ADVGLALGTL YGNVFSQTTI
361 CRFEALQLSF KNMCKLKPLL NKWLEEADSS TGSPTSIDKI AAQGRKRKKR TSIEVSVKGA
421 LESHFLKCPK PSAQEITNLA DSLQLEKEVV RVWFCNRRQK EKRMTPPGIQ QQTPDDVYSQ
481 VGTVSADTPP PHHGLQTSVQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against POU3F3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.63
- Highest tissue expression
- 43 nTPM
Expression across tissuesHPA
Tissue
- kidney: 43 nTPM
- epididymis: 31 nTPM
- spinal cord: 30 nTPM
- hippocampal formation: 27 nTPM
- cerebral cortex: 27 nTPM
- amygdala: 25 nTPM
Single-cell type
- loop of henle epithelial cells: 71 nCPM
- renal connecting tubule cells: 51 nCPM
- distal convoluted tubule cells: 49 nCPM
- renal collecting duct principal cells: 40 nCPM
- proximal tubule cells: 26 nCPM
- renal collecting duct intercalated cells: 23 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- white matter: 113 nTPM
- basal ganglia: 98 nTPM
- cerebral cortex: 98 nTPM
- midbrain: 97 nTPM
- cerebellum: 96 nTPM
- medulla oblongata: 88 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about POU3F3.
Disease | AllUniProt
Conditions POU3F3 is implicated in, by any mechanism.
- Snijders Blok-Fisher syndrome (SNIBFIS) MIM:618604
Disease | GeneticClinVar
55 pathogenic / likely-pathogenic of 246 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Snijders blok-fisher syndrome
- Inborn genetic diseases
- Intellectual disability
- Developmental disorder
- POU3F3-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.43
- gnomAD pLI
- 0.88
- gnomAD missense Z
- 3.04
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- central nervous system development
- cerebral cortex radially oriented cell migration
- forebrain ventricular zone progenitor cell division
- metanephric ascending thin limb development
- metanephric loop of Henle development
- metanephric thick ascending limb development
- negative regulation of apoptotic process
- negative regulation of DNA-templated transcription
- positive regulation of cell population proliferation
- positive regulation of DNA-templated transcription
- positive regulation of gene expression
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
- urea transmembrane transport
- chemical homeostasis
- metanephric DCT cell differentiation
- metanephric macula densa development
Molecular functions
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- HMG box domain binding
- protein homodimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads POU3F3 as an antibody target. Whether an autoantibody or antibody against POU3F3 could matter depends on whether native POU3F3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
POU3F3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label POU3F3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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